RESUMO
Pemphigus is a group of life-threatening autoimmune blistering diseases of the skin and mucous membranes. The etiology and pathogenesis of this destructive autoimmune process remains unknown, but significant association with human leukocyte antigen (HLA) factors have been described in pemphigus vulgaris (PV) patient cohorts worldwide. We have recently analyzed DNA samples obtained from pemphigus patients and matched controls with a set of microsatellite markers, and found that markers mapped to HLA class I region are significantly associated with the disease. In order to narrow the region that is associated with the disease single nucleotide polymorphism (SNP) technology was used. In this study, a set of 26 SNP markers, which span a chromosomal region of about 600,000 bp, were used to screen DNA samples of the patients and their matched controls. Of the 26 SNPs, four markers were found informative, all mapped to HLA-G. Typing patients and controls for HLA-G polymorphism revealed significant differences in the exon 8 deletion/insertion variant. The latter is probably associated with the efficiency of transcription of this gene. Taken together, the results suggest that HLA-G is associated with PV in Jewish patients.
Assuntos
Antígenos HLA/genética , Antígenos de Histocompatibilidade Classe I/genética , Judeus/genética , Pênfigo/genética , Alelos , Estudos de Casos e Controles , Éxons/genética , Frequência do Gene , Marcadores Genéticos , Predisposição Genética para Doença , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Antígenos HLA-G , Humanos , Repetições de Microssatélites , Mutagênese Insercional , Pênfigo/etnologia , Polimorfismo de Nucleotídeo Único , Deleção de SequênciaRESUMO
Allele distributions of 10 short tandem repeat (STR) polymorphic DNA loci used in forensic and paternity testing were determined for a cohort comprising 163 individuals representing a mixed Jewish Caucasian population. Typing was carried out by the commercial AmpF lSTR SGM Plus kit. The polymorphism and the utility of three of these markers for forensic studies in Israel were established for the first time. Results were compared with data for U.S. Caucasians and African Americans. The probability of identity of two persons of different ethnic origins for identification purposes is discussed. A lemma is presented to show that the chance of erroneous identification of an innocent person who belongs to a population that had not committed a crime will, in most cases, be smaller than for those who belong to a population that had truly committed the crime.
